Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607125
rs267607125
4 0.851 0.080 3 52453993 missense variant G/A snv 7.0E-06 0.710 1.000 12 2008 2018
dbSNP: rs730881061
rs730881061
1 1.000 0.040 3 52451415 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs267607124
rs267607124
6 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.060 1.000 6 2008 2017
dbSNP: rs267607123
rs267607123
4 0.882 0.080 3 52452222 missense variant A/T snv 4.0E-06 7.0E-06 0.040 1.000 4 2005 2019
dbSNP: rs267607126
rs267607126
3 0.882 0.080 3 52451810 missense variant C/T snv 0.020 1.000 2 2008 2009
dbSNP: rs397516847
rs397516847
2 0.925 0.080 3 52451443 missense variant C/A snv 1.4E-05 0.020 1.000 2 2008 2017
dbSNP: rs104893823
rs104893823
5 0.882 0.040 3 52451285 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs397514616
rs397514616
4 0.851 0.120 3 52452217 missense variant C/A;T snv 0.010 1.000 1 2012 2012